Results 41 to 50 of about 1,611,821 (178)

Immunodeficiency and Lymphoma in Jacobsen Syndrome [PDF]

Journal of Investigational Allergology and Clinical Immunology, 2022
Nigolian, Haig, Nieke, Jan Philipp, Chevallier, Marion, Stathaki, E, Sloan Bena, Frédérique, Carminho Amaro Rodrigues, Maria Teresa, Jandus, Peter   +6 more
openaire   +2 more sources

Food Security Versus Environmental Health: The Nitrogen Dilemma

Journal of Plant Nutrition and Soil Science, EarlyView.
ABSTRACT Nitrogen is an essential element for plant growth and, consequently, crop production. However, the cycling of nitrogen in the environment can have negative effects. Here, we review the historical development of scientific and public awareness of these effects and the influence this has had on political action to control them.
Henrike Mielenz, Norbert Bischoff, Klaus Butterbach‐Bahl, Uwe Häußermann, Kurt‐Christian Kersebaum, Karin Rather, Burkhard Stever‐Schoo, Reinhard Well, Claas Nendel   +8 more
wiley   +1 more source

Systematic Review of Patient‐ and Observer‐Reported Outcomes of Fatigue in Pediatric Neuromuscular Disorders

Muscle &Nerve, EarlyView.
ABSTRACT Fatigue is a burdensome symptom for pediatric populations with neuromuscular disorders, often assessed using patient‐ and observer‐reported outcomes. The three aims of this systematic review are to: (1) explore, summarize and critically appraise primary studies that measure fatigue in pediatric neuromuscular disorders using patient‐ and ...
Monica Marzouk, Kayla M. D. Cornett, Gabrielle A. Donlevy, Carl Young, Joshua Burns, Manoj P. Menezes, Marnee J. McKay   +6 more
wiley   +1 more source

Prenatal diagnosis of Jacobsen syndrome with cystic hygroma [PDF]

, 1970
Jacobsen syndrome (JBS) is a rare, contiguous genetic deletion syndrome caused by partial deletion of chromosome 11q. It is difficult to diagnose JBS by ultrasonography during the prenatal period because it has atypical clinical findings. Although nuchal
Itakura, Atsuo, Suzuki, Toshifumi, Hayashi, Takashi   +2 more
core   +1 more source

Genome‐Wide NIPT With Fetal‐Fraction Enrichment and BinDel: Clinical Cohort Evaluation of Microdeletion and ‐Duplication Detection

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the analytical and clinical performance of fetal fraction (FF) enriched genome‐wide noninvasive prenatal testing (GW‐NIPT) for the detection of clinically relevant copy number variants (CNVs) down to 1 Mb. Methods We retrospectively analyzed 10,501 singleton pregnancies tested with FF enrichment‐based GW‐NIPT between ...
Karmen Vaiküll, Priit Paluoja, Signe Mölder, Vadym Gryshchenko, Neeme Tõnisson, Andres Salumets, Kaarel Krjutškov   +6 more
wiley   +1 more source

Detailed analysis of mortality rates in the female progeny of 1,001 Holstein bulls allows the discovery of new dominant genetic defects

Journal of Dairy Science, 2023
: Reducing juvenile mortality in cattle is important for both economic and animal welfare reasons. Previous studies have revealed a large variability in mortality rates between breeds and sire progeny groups, with some extreme cases due to dominant ...
F. Besnard, H. Leclerc, M. Boussaha, C. Grohs, N. Jewell, A. Pinton, H. Barasc, J. Jourdain, M. Femenia, L. Dorso, B. Strugnell, T. Floyd, C. Danchin, R. Guatteo, D. Cassart, X. Hubin, S. Mattalia, D. Boichard, A. Capitan   +18 more
doaj   +1 more source

Marginal Changes in Semen Quality Over Three Decades (1996‒2022) Among 8320 Men in the Danish Young Men Study (DYMS): Cohort Profile and Trends

Andrology, EarlyView.
ABSTRACT Background Since the 1990s, declining sperm counts and increasing testicular cancer rates have raised worldwide concern about male reproductive health, including in Denmark. This prompted a prospective population‐based study with annual surveillance of semen quality.
Lærke Priskorn, Cille Baslund‐Storch, Laura S. Hansen, Astrid L. Beck, Ann H. Hansen, Stine A. Holmboe, Loa Nordkap, Anne Kirstine Bang, Rune Lindahl‐Jacobsen, Christine Dalgård, Anna‐Maria Andersson, Tina K. Jensen, Anders Juul, Niels Jørgensen   +13 more
wiley   +1 more source

Current Knowledge on Inherited Platelet Function Disorders

Clinical Pediatric Hematology-Oncology, 2020
Inherited platelet function disorders (IPFDs) are rare and underdiagnosed in individuals with clinically significant bleeding diathesis. IPFDs are classified according to the causative molecular defects involved in the process of primary hemostasis of ...
Nani Jung, Ye Jee Shim
doaj   +1 more source

Jacobsen syndrome with bilateral periventricular white matter lesions

World Journal of Pediatrics, 2021
restriction
Hyun-Joo Lee, Hae-In Lee, Ji-Hoon Na, Young-Mock Lee   +3 more
openaire   +3 more sources

Amylin analogues as a novel perspective in anti‐obesity therapy

British Journal of Pharmacology, EarlyView.
Abstract Public health systems face a major challenge because of the worldwide obesity epidemic. The number of obese individuals has increased dramatically and, even in Switzerland which may be considered a relatively “lean” country, the numbers are alarmingly high and have reached almost 50% of the adult population.
Thomas A. Lutz
wiley   +1 more source